POMK Gene Limb‑Girdle Muscular Dystrophy Type 12C Genetic Test in UAE | 2800 AED | DHA Licensed NGS

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM–11 PM).
Clinical Guidance: Board‑certified geneticist teleconsultation for result interpretation.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

This advanced genetic test leverages Next‑Generation Sequencing (NGS) to detect pathogenic variants in the POMK gene, confirming autosomal recessive limb‑girdle muscular dystrophy type 12C (LGMDR12). The assay provides complete coding and deep intronic coverage with >100x average read depth, surpassing standard single‑gene methods and delivering unmatched diagnostic yield for the UAE population.

Test Overview & Methodology

Our assay targets the entire POMK coding region and flanking intronic sequences using targeted NGS library preparation and sequencing on Illumina platforms. Bioinformatic analysis detects single‑nucleotide variants (SNVs), small insertions/deletions (indels), and copy‑number variants (CNVs) with 99.9% sensitivity and specificity. The test follows ISO 15189 quality standards and is performed in our DHA‑licensed Dubai laboratory.

Feature	Our Test – DHA Licensed NGS	Closest Alternative
Precision	99.9% sensitivity for SNVs, indels & CNVs	Limited to Sanger‑detectable point mutations
Method	NGS with >100x average coverage & deletion/duplication analysis	CCDS‑anchored Sanger sequencing
Turnaround	3–4 weeks	6–8 weeks

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) states: "This NGS‑based test provides definitive molecular confirmation of LGMDR12 by detecting pathogenic variants in the POMK gene. A negative result does not exclude all muscular dystrophies or acquired myopathies; clinical correlation with neurological examination and, where indicated, muscle biopsy is essential. Do not alter prescribed therapies without consulting your specialist."

Advisory Notice

Medication Warning: Do not discontinue prescribed medication without consulting your doctor. Genetic test results should never prompt self‑directed dosing adjustments.

Safety Exclusion Criteria & Emergency Red Flags

Exclusion: Individuals under 18 without parental/legal guardian consent (mandated by Federal Decree‑Law No. 4 of 2016 on Medical Liability).
Exclusion: Patients with active systemic infection that may compromise sample integrity; postpone until resolution.
Exclusion: Refusal to attend a mandatory pre‑test genetic counselling session (required by UAE medical liability regulations).
🚨 ER Red Flags: Sudden respiratory distress, severe muscle pain with dark/cola‑colored urine (suspected rhabdomyolysis), acute cardiac symptoms – seek immediate emergency medical care.

Patient FAQ & Clinical Guidance

1. What exactly does this test detect, and how does it confirm a diagnosis?

Our NGS test identifies pathogenic variants in the POMK gene that cause limb‑girdle muscular dystrophy type 12C. It reads the entire coding region plus adjacent intronic boundaries, enabling detection of single nucleotide changes, small insertions/deletions, and larger copy number variants. Confirmation requires correlation with clinical symptoms and, where possible, parental testing to confirm biallelic inheritance.

2. Is a home blood draw available, and how does the sample stay safe during transport?

Yes, our VIP mobile phlebotomy service collects your sample at home, maintaining a constant 2–8 °C cold‑chain. A trained phlebotomist arrives within an 8 AM–11 PM window; the sample is placed immediately into a validated stabilisation buffer (DNA FTA card or EDTA tube) and transported in an ISO‑certified temperature‑monitored container directly to our Dubai laboratory. This process guarantees DNA integrity and meets DHA transport regulations under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.

3. When will I receive my results, and does the report include genetic counselling?

Your comprehensive report is typically delivered within 3–4 weeks and includes a complimentary post‑test teleconsultation. The PDF report uses standardised nomenclature (HGVS) and integrates a detailed clinical interpretation, carrier probability for family members, and a list of phenotypic correlations. A board‑certified geneticist from our team will call you to explain the findings, respecting the UAE Personal Data Protection Law (PDPL).

UAE Regulatory & Data Privacy Adherence

Your Data, Your Rights

DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and strictly adheres to Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient health information. All genetic data is encrypted, access‑controlled, and processed within UAE‑based servers. The laboratory also complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health systems. Clinical safety and patient consent procedures align with Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring that every step of the diagnostic pathway respects your rights and well‑being.

Clinical & Logistical Metadata

Test Name	POMK Gene Limb‑Girdle Muscular Dystrophy Type 12C Genetic Test
Price (AED)	2,800 AED
Turnaround Time	3–4 weeks
Sample Type / Matrix	Peripheral whole blood (EDTA tube) or buccal swab (DNA FTA card)
Methodology Used	Targeted Next‑Generation Sequencing (NGS) with CNV analysis
ICD‑10‑CM Code	G71.0, Z13.7, Z82.79
LOINC Code	82128-5
DHA Facility License & Laboratory Address	DHA License No: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE